| 杨敏,林佑妮,蔡裕福,石文坚,陈玉宽,李明瑞.Mfn-1、Mfn-2和Opa1基因多态性与梅州客家人群原发性高血压严重程度及临床疗效的关系.[J].中南医学科学杂志.,2025,(1):149-153. |
| Mfn-1、Mfn-2和Opa1基因多态性与梅州客家人群原发性高血压严重程度及临床疗效的关系 |
| Associations of Mfn-1, Mfn-2 and Opa1 gene polymorphisms with the severity and clinical efficacy of essential hypertension among the Meizhou Hakka population |
| 投稿时间：2023-11-20 修订日期：2024-04-30 |
| DOI：10.15972/j.cnki.43-1509/r.2025.01.037 |
| 中文关键词: Mfn-1 Mfn-2 Opa1 基因多态性 梅州客家人群 原发性高血压 临床疗效 [ |
| 英文关键词:Mfn-1 Mfn-2 Opa1 gene polymorphism Meizhou Hakka population essential hypertension clinicalefficacy |
| 基金项目:梅州市人民医院科研培育资助项目(PY-C2021027) |
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| 中文摘要: |
| 目的分析线粒体融合蛋白-1(Mfn-1)、Mfn-2和视神经萎缩蛋白1(Opa1)基因多态性与梅州客家人群原发性高血压严重程度及临床疗效的关系。 方法选择收治的梅州客家100例原发性高血压患者为观察组,同期选择健康客家人群46例为对照组。比较两组受检者临床资料,包括血清总胆固醇(TC)、甘油三酯(TG)、高密度脂蛋白(HDL)、低密度脂蛋白(LDL)、空腹血糖(FBG)、糖化血红蛋白(HbA1c)、血尿酸(UA)、血肌酐(Cr)和尿素氮(UN)等生化指标。采用单核苷酸多态性位点(SNP)多态性测序检测Mfn-1、Mfn-2和Opa1基因多态性,比较观察组及对照组Mfn-1(rs11916762、rs7620017)、Mfn-2(rs2336384、rs2236057)及Opa1(rs7620342、rs11925699)SNPs的分布情况；进而分析观察组中不同高血压分级及临床疗效亚组Mfn-1、Mfn-2和Opa1基因SNPs的分布情况。 结果观察组体质指数、TC、LDL、UA及Cr水平高于对照组(P＜0.05)。观察组与对照组患者基因多态性位点rs11916762、rs7620017 AG、rs2336384 TT、rs2236057 GG、rs7620342 GT及rs11925699 AA+AG分布占比差异无统计学意义(P＞0.05)。在不同分级的原发性高血压亚组患者中3级原发性高血压患者rs2336384 GG占比高,且GT及TT占比低于1级原发性高血压组(P＜0.05)。治疗显效患者rs11916762和rs7620017 AG、rs2336384 TT、rs2236057 GG、rs7620342 GT及rs11925699 AA+AG分布占比高于无效患者(P＜0.05)；而rs11916762和rs7620017 AA及GG,rs2336384 GG及GT,rs2236057 AA,rs7620342 GG及TT,rs11925699 AA+GG占比低于无效患者(P＜0.05)。 结论Mfn-1、Mfn-2及Opa1基因多态性在梅州客家人群原发性高血压不同分级及临床疗效亚组中分布不同,可用来指导临床优化原发性高血压个体化药物治疗方案,进而为早期开展相应的防治措施提供有效依据。 |
| 英文摘要: |
| AimTo analyze the associations between the polymorphism of mitochondrial fusion protein-1 (Mfn-1), Mfn-2 and optic atrophy protein 1 (Opa1) and the severity and clinical efficacy of primary hypertension among the Hakka population in Meizhou. Methods100 hypertension patients from the Meizhou Hakka admitted to our hospital were selected as the observation group, while 46 Hakka healthy people were selected as the control group. The clinical data indicators such as serum total cholesterol (TC), triglycerides (TG), high-density lipoprotein (HDL), low-density lipoprotein (LDL), fasting blood glucose (FBG), glycated hemoglobin (HbA1c), uric acid (UA), creatinine (Cr), and urea nitrogen (UN) between two groups were compared. The polymorphisms distributions of Mfn-1(rs11916762, rs7620017), Mfn-2 (rs2336384, rs2236057) and Opa1 (rs7620342, rs11925699) were detected by single nucleotide polymorphism (SNP) polymorphism sequencing, and the distributions of Mfn-1 (rs11916762, rs7620017), Mfn-2 (rs2336384, rs2236057), Opa1 (rs7620342, rs11925699) were compared between the observation and control groups. Then the above SNPs were analyzed between the subgroups under different hypertension grades and different therapeutic effects. ResultsThe levels of body mass index, TC, LDL, UA, and Cr in the observation group were higher than those in the control group (P＜0.05). There was no statistically significant difference on the distribution of gene polymorphism loci such as rs11916762 and rs7620017 AG, rs2336384 TT, rs2236057 GG, rs7620342 GT, and rs11925699 AA+AG between the observation group and the control group (P＞0.05). Moreover, the patients under the grade 3 primary hypertension had higher proportions of rs2336384 GG, and lower proportions of GT and TT than those in the grade 1 primary hypertension subgroup (P＜0.05). Furthermore, the distributions of rs11916762 and rs7620017 AG, rs2336384 TT, rs2236057 GG, rs7620342 GT, and rs11925699 AG among the primary hypertension patients with significant improvement in primary hypertension was higher than those in patients with ineffective treatment (P＜0.05). However, the proportions of rs11916762 and rs7620017 AA and GG, rs2336384 GG and GT, rs2236057 AA, rs7620342 GG and TT, and rs11925699 AA+GG was lower (P＜0.05). ConclusionIt is significantly different of the distributions of the polymorphisms in the Mfn-1, Mfn-2, and Opa1 in the subgroups with different grades and therapeutic efficacy subgroups among the primary hypertension patients from Hakka population in Meizhou, which can be used to guide the clinical optimization of individualized drug treatments, and provide the effective basis for the early implementation of prevention and treatments. |
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